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Sam Smith (@scolbysmith)

Activity by Sam Smith

Sam Smith (@scolbysmith) posted · Thu, Jun 26 10:12am · View  

Mayo Clinic Recommends New Routine Testing for some Non-Hodgkin Lymphomas

ROCHESTER, Minn. — A Mayo Clinic-led group of researchers has discovered three subgroups of a single type of non-Hodgkin lymphoma that have markedly different survival rates. These subgroups could not be differentiated by routine pathology but only with the aid of novel genetic tests, which the research team recommends giving to all patients with ALK-negative anaplastic large-cell lymphoma (ALCL). Findings are published in the journal Blood.

Journalists: Sound bites with Dr. Feldman are available in the downloads.

Patients whose lymphomas had TP63 rearrangements had only a 17 percent chance of living five years beyond diagnosis, compared to 90 percent of patients whose tumors had DUSP22 rearrangements. A third group of tumors, those with neither rearrangement, was associated with an intermediate survival rate. [...]

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Sam Smith (@scolbysmith) posted · Fri, Jun 13 4:03pm · View  

Changes in Genetic Testing Recommendations Strengthen Patient Autonomy

ROCHESTER, Minn. ― Recent modifications in recommendations regarding incidental findings (IFs) in genetic testing from the American College of Medical Genetics and Genomics (ACMG) depart from the college’s 2013 recommendations in favor of an individualized approach. Experts in the Bioethics Program of the Mayo Clinic Center for Individualized Medicine published a review of the updated 2014 recommendations in the journal Proceedings.

Pictured is Circos plot, depicting the results of genome sequencing. The green dots are areas that might implicate a disease, but the rest of the results may reveal information that the patient does not necessarily want to know.

Pictured is Circos plot, depicting the results of genome sequencing. The green dots represent areas that might have implications in a particular disease. The rest likely contains medical information that a patient may or may not want to know.

“The feedback from ACMG members indicated that the 2013 recommendations did not accommodate diverse patient needs,” says Jennifer McCormick, Ph.D., M.P.P., who authored the review.

The 2013 recommendations embraced an all-or-nothing philosophy, which advised patients who did not want to be informed of some, or all, IFs to forgo whole exome or whole genome sequencing (WES/WGS), according to the review. In addition, the college originally instructed that laboratories “actively search” and notify patients of pathogenic variants in genes, which raised controversy regarding patient rights.

With the 2014 recommendations, patients have more autonomy to customize their WES/WGS results based on their comfort level with knowledge, other than the original reason to seek genetic testing, says Dr. McCormick.

"This is an important discussion, and the move toward greater autonomy is good for everyone ― both patients and physicians," says Dr. McCormick. "Medicine in general is moving toward more patient autonomy and shared decision making. Genomics and individualized medicine happen to be the starkest and least well-defined examples of this trend ― we have no best practices yet."

Much genomic analysis is meant to aid the patient in making medical decisions, sometimes in the distant future, and there are often far-reaching implications for family members, say Dr. McCormick and her co-authors. These factors combine to make this type of testing very personal, especially regarding incidental findings. For example, patients can decide before testing to filter their results for only one part of their genome. This step is important because it differentiates between single-gene testing and WES/WGS. Where single-gene testing is selective, whole exome/genome sequencing is comprehensive. [...]

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Sam Smith (@scolbysmith) posted · Mon, Jun 23 2:33pm · View  

Genomics of Lung Cancer Progression Varies Widely Among Patients; Offers Clues to Predictive Biomarkers

ROCHESTER, Minn. — Tumor sequencing of several different lung cancers and their surrounding tissue complicates the prevailing theory of linear lung cancer progression and offers new insights for management of this deadly cancer, according to a new Mayo Clinic study. Sequencing results provide, for the first time, strong molecular evidence of progression from phenotypically indolent components to more aggressive disease and also show that both components can progress independently, even if they arise from the same precursor, according to the study. The paper appears online in Cancer Research.

Images of frozen lung cancer tissue (above) before laser dissection and after. The two upper-left images represent lepidic (or slow-growing) lung cancer that might be managed with less aggressive options, such as radiation or watchful waiting. The upper-right images are of invasive lung cancer, which would likely benefit from more aggressive treatments, including surgery and chemotherapy. The graph shows the number of genomic rearrangements for invasive (INV) and lepidic (L) components of lung cancer.

Images of frozen lung cancer tissue (above) before laser dissection and after. The two upper-left images represent lepidic (or slow-growing) lung cancer that might be managed with less aggressive options, such as radiation or watchful waiting. The upper-right images are of invasive lung cancer, which would likely benefit from more aggressive treatments, including surgery and chemotherapy. The graph shows the number of genomic rearrangements for invasive (INV) and lepidic (L) components of lung cancer.

“This study sheds light on potential changes in our understanding of both the molecular pathogenesis and best treatment of lung adenocarcinoma,” says George Vasmatzis, Ph.D., senior author of the study and co-director of the Biomarker Discovery Program in the Mayo Clinic Center for Individualized Medicine. “The heterogeneity of lung cancer tells us repeatedly that the natural history of tumors and the roads to progression vary among cases, and multiple models are possible in certain cancers.”

Lung cancer accounts for nearly 160,000 deaths every year in the United States, more than the next three most-common cancers combined, according to the American Lung Association. Treatment of early-stage cancers may be tailored according to the type of genomic alterations observed, says Dr. Vasmatzis. In some cases, this could mean less-aggressive treatment and periods of close observation, while other situations may call for more immediate interventions, such as surgery or radiation.

“As suggested by clinical studies demonstrating improved disease-free and overall survival for treatment of lesions containing components of adenocarcinoma in situ [noninvasive lung cancer], it may be that this represents a distinct clinical entity that can be treated less aggressively by either sub-lobar resection or even periods of watchful waiting with close imaging follow-up prior to any treatment,” says Dr. Vasmatzis. [...]

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Sam Smith (@scolbysmith) posted · Tue, May 20 12:03pm · View  

Mayo Clinic and Whole Biome Announce Collaboration: Joint Development of Microbiome Diagnostic Testing to Focus on Women’s Health and Preterm Labor

Certain strains of the campylobacter bacteria, seen above, have long been implicated in preterm labor and spontaneous abortion in livestock. Scientific evidence has started mounting that this foodborne pathogen may trigger preterm labor in humans, as well. New tests from the Mayo Clinic-Whole Biome collaboration aim to detect a range of bacteria, such as campylobacter, to help expectant mothers achieve full-term pregnancies.

Certain strains of the campylobacter bacteria, seen above, have long been implicated in preterm labor and spontaneous abortion in livestock. Scientific evidence has started mounting that this foodborne pathogen may trigger preterm labor in humans, as well. New tests from the Mayo Clinic-Whole Biome collaboration aim to detect a range of bacteria, such as campylobacter, to help expectant mothers achieve full-term pregnancies.

ROCHESTER, Minn., and SAN FRANCISCO — The Mayo Clinic Center for Individualized Medicine and Whole Biome today announced a collaboration to develop microbiome targeted diagnostic testing, beginning in Women’s Health, with a focus on preterm labor. Preterm birth is the most common cause of infant death and is the leading cause of long-term disability in children, according to the National Institutes of Health. Many preterm births may be delayed or prevented with microbiome-based testing and intervention, according to Mayo Clinic experts.

“Understanding the microbiome, and translating that understanding into enhanced patient care is a major goal within the Center for Individualized Medicine,” says Heidi Nelson, M.D., director of the center’s Microbiome Program. “Our early work suggests the microbiome may play a significant role in triggering preterm labor, and we are excited to take these early results into clinical trials with Whole Biome’s analytics platform.”

“This collaboration is bringing together the clinical expertise of Mayo Clinic with our innovative diagnostic tools,” says Colleen Cutcliffe, CEO of Whole Biome. “Together, we plan to transform affordable and detailed microbiome information into tools that will improve patient health and their lives.”

Whole Biome’s Complete Biome Test is able to generate microbiome profiles with strain-level resolution at a low cost, enabling researchers and physicians to more rapidly conduct large-scale studies and produce effective microbiome diagnostics to help predict, treat and prevent life-threatening issues. [...]

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Sam Smith (@scolbysmith) posted · Mon, Apr 28 9:20am · View  

Mayo Clinic Launches 50-Gene Cancer Panel Test

ROCHESTER, Minn. — Mayo Clinic announces the launch of CANCP, a new gene panel cancer test to help tailor chemotherapy to the individual patient based on the unique genomic signature of the patient’s tumor. CANCP, an abbreviation for Solid Tumor Targeted Cancer Gene Panel by Next-Generation Sequencing, scans specific regions in 50 genes known to affect tumor growth and response to chemotherapy. The test is now available to Mayo Clinic patients and to providers worldwide through Mayo Medical Laboratories.

“Every patient’s cancer is different, and oncology is moving away from treating cancer based on its location in the body in favor of selecting the best medication for the individual patient based on molecular changes in the tumor,” says Axel Grothey, M.D., a Mayo Clinic oncologist who orders CANCP on selected tumors. “This test helps providers identify such molecular changes without infusing irrelevant details from genes that we know will not affect our choice of medications.” [...]

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Sam Smith (@scolbysmith) posted · Thu, Apr 17 2:57pm · View  

National DNA Day is April 25; Experts Available for Comment

Digital illustration DNA structure

ROCHESTER, Minn. — Friday, April 25, is National DNA Day, the date which commemorates completion of the Human Genome Project, the national effort to identify and decode all 6 billion letters in human DNA. Since that time, medical researchers and practitioners have found new ways to apply genomics for everyone who needs healing, and thanks to staggering technological advancements and next-generation sequencing, the cost to sequence a patient’s genome has decreased from $3 billion for the first human genome in 2003 to approximately $1,500.

MEDIA: Gianrico Farrugia, M.D., director of the Mayo Clinic Center for Individualized Medicine, is available for interviews and background about the future of genomic medicine, as well as information about the latest practices and transformative clinical trialsTo interview Dr. Farrugia contact Sam Smith, Mayo Clinic Public Affairs, 507-284-5005, newsbureau@mayo.edu

Watch video on genome sequencing:

 

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Sam Smith (@scolbysmith) posted · Mon, Apr 7 4:48pm · View  

Mayo Clinic Shares Lessons Learned from Genomics Clinic for Sequencing-based Cancer Care and Diagnostics

ROCHESTER, Minn. — It has been 1.5 years since Mayo Clinic opened the world’s first integrated multidisciplinary genomics service, the Individualized Medicine Clinic, which uses genomics and next-generation sequencing technologies to personalize treatments for patients with advanced cancer and complex diagnoses. In a special issue of the American Journal of Medical Genetics Part C, “Implementation of Genomic Medicine,” developers of the Individualized Medicine Clinic report the clinic’s structure and share lessons learned in everything from efficacy of genomics in patient care to struggles with insurance reimbursement and ethical dilemmas.

A flow cell used in next-generation sequencing. A complete human genome can be decoded from this slide in a few days.

A flow cell used in next-generation sequencing. A complete human genome can be decoded from this slide in a few days.

Konstantinos Lazaridis, M.D., a Mayo Clinic hepatologist and director of the Individualized Medicine Clinic, says the clinic is a natural extension of Mayo’s commitment to putting the needs of the patient first and that leaders in the Mayo Clinic Center for Individualized Medicine saw this opportunity as an imperative. Since opening the clinic, more than 30 percent of patients on a diagnostic odyssey have received answers through whole-exome sequencing.

“We now have the capability to understand cancer and diagnostic odyssey cases at their most fundamental level,” says Dr. Lazaridis. “And while we had many hurdles to overcome in designing and launching this clinic, we continue to improve our services, and that’s what matters to people who need our help.” [...]

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Sam Smith (@scolbysmith) posted · Tue, Mar 25 3:41pm · View  

Implications of Patient Genomic Sequencing at ACMG

ROCHESTER, Minn. — Researchers from the Mayo Clinic Center for Individualized Medicine will present results of three different studies evaluating implications and feasibility of genome sequencing at the ACMG Annual Clinical Genetics Meeting this week in Nashville, Tenn. Presenters are available for interviews at the conference or remote interviews by telephone. To schedule an interview, please contact Sam Smith, Mayo Clinic public affairs specialist, at 507-284-5005 or newsbureau@mayo.edu.

Richard Sharp, Ph.D., director of the Bioethics Program in the Mayo Clinic Center for Individualized Medicine, also will participate on Saturday, March 30, in a panel discussion entitled “Duty to Recontact” in the Genomics Era: Interdisciplinary Perspectives and Open Forum. “Duty to Recontact” addresses providers’ obligations to patients who have undergone previous genetic testing, given the growing complexities of genetic/genomic medicine and the potential for new findings in old tests. Dr. Sharp is an advisor to the National Institutes of Health, the Institute of Medicine and the Environmental Protection Agency. He can discuss the ethical, legal and social implications of integrating genomics technologies into patient care. [...]

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